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https://www.readbyqxmd.com/read/28431466/next-generation-sequencing-reveals-one-novel-missense-mutation-in-col1a2-gene-in-an-iranian-family-with-osteogenesis-imperfecta
#1
Farah Talebi, Farideh Ghanbari Mardasi, Mohammadi Asl Javad, Bavarsad Amir Hooshang, Salehi Kambo Masoumeh
BAckground: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2...
April 22, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28431438/comparison-of-intact-parathyroid-hormone-alkaline-phosphatase-phosphate-levels-for-diagnosing-severe-metabolic-bone-disease-in-infants-with-severe-bronchopulmonary-dysplasia
#2
Erin K Tkach, Ammie M White, Kevin C Dysart, Brenda Waber, Ursula S Nawab, Huayan Zhang, Erik A Jensen
No abstract text is available yet for this article.
April 21, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28431414/intratracheal-instillation-of-neutrophils-rescues-bacterial-overgrowth-initiated-by-trauma-damage-associated-molecular-patterns
#3
Kiyoshi Itagaki, Ingred Riça, Jing Zhang, Dave Gallo, Melissa DePrato, Leo E Otterbein, Carl J Hauser
BACKGROUND: Nosocomial pneumonias are common in trauma patients and so interventions to prevent and treat nosocomial pneumonia may improve outcomes. Our prior work strongly suggests that tissue injury predisposes to infections like nosocomial pneumonia because mitochondrial debris originating from injured cells contains damage-associated molecular patterns that can reduce neutrophil (PMN) migration into the airway and diminish PMN function in response to bacterial inoculation of the airway...
May 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28431400/local-delivery-of-hmgb1-in-gelatin-sponge-scaffolds-combined-with-mesenchymal-stem-cell-sheets-to-accelerate-fracture-healing
#4
Deting Xue, Wei Zhang, Erman Chen, Xiang Gao, Ling Liu, Chenyi Ye, Yanbin Tan, Zhijun Pan, Hang Li
Fracture nonunion and delayed union continue to pose challenges for orthopedic surgeons. In the present study, we combined HMGB1 gelatin sponges with MSC sheets to promote bone healing after surgical treatment of rat tibial fractures. The HMGB1 gelatin sponge scaffolds supported the expansion of mesenchymal stem cells (MSCs) and promoted the osteogenic differentiation of MSCs and MSC sheets. Lentiviral vectors were then used to overexpress HMGB1 in MSCs. The results indicated that HMGB1 promotes the osteogenic differentiation of MSCs through the STAT3 pathway...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431398/decreased-calpain-activity-in-chronic-myeloid-leukemia-impairs-apoptosis-by-increasing-survivin-in-myeloid-progenitors-and-xiap1-in-differentiating-granulocytes
#5
Weiqi Huang, Ling Bei, Elizabeth E Hjort, Elizabeth A Eklund
Chronic Myeloid Leukemia (CML) is characterized by translocations between chromosomes 9 and 22, resulting in expression of Bcr-abl oncogenes. Although the clinical course of CML was revolutionized by development of Bcr-abl-directed tyrosine kinase inhibitors (TKIs), CML is not cured by these agents. Specifically, the majority of subjects relapsed in clinical trials attempting TKI discontinuation, suggesting persistence of leukemia stem cells (LSCs) even in molecular remission. Identifying mechanisms of CML-LSC persistence may suggest rationale therapeutic targets to augment TKI efficacy and lead to cure...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431329/stealth-recombinant-human-serum-albumin-nanoparticles-conjugating-5-fluorouracil-augmented-drug-delivery-and-cytotoxicity-in-human-colon-cancer-ht-29-cells
#6
Ankita Sharma, Amanpreet Kaur, Upendra Kumar Jain, Ramesh Chandra, Jitender Madan
BACKGROUND AND OBJECTIVE: 5-Fluorouracil (5-FU) is a first-line chemotherapeutic drug in colorectal cancer. However, intravenous administration of 5-FU at the dose of 7-12mg/kg exhibits curbs like short half-life (20min) and toxic side-effects on bone marrow cells. Therefore, in present investigation, 5-FU was conjugated to poly (ethylene glycol) anchored recombinant human serum albumin nanoparticles (5-FU-rHSA-PEG-NPs) to improve the pharmacokinetic and therapeutic profiles. METHODS AND RESULTS: The mean particle size of 5-FU-rHSA-NPs was measured to be 44...
April 12, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28431181/protective-effect-of-mesenchymal-stem-cells-against-the-development-of-intracranial-aneurysm-rupture-in-mice
#7
Atsushi Kuwabara, Jia Liu, Yoshinobu Kamio, Airan Liu, Michael T Lawton, Jae-Woo Lee, Tomoki Hashimoto
BACKGROUND: Mesenchymal stem cells (MSCs) are multipotent stem or stromal cells found in multiple tissues. Intravenous MSC injections have been used to treat various diseases with an inflammatory component in animals and humans. Inflammation is emerging as a key component of pathophysiology of intracranial aneurysms. Modulation of inflammation by MSCs may affect sustained inflammatory processes that lead to aneurysmal rupture. OBJECTIVE: To assess the effect of MSCs on the development of aneurysm rupture using a mouse model...
April 19, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28431178/influence-of-dietary-calcium-concentrations-and-the-calcium-to-non-phytate-phosphorus-ratio-on-growth-performance-bone-characteristics-and-digestibility-in-broilers
#8
A E Gautier, C L Walk, R N Dilger
Two experiments were conducted to determine the influence of dietary Ca concentrations (Experiment 1) and a combination of dietary Ca and non-phytate phosphorus (NPP) to create distinct Ca-to-NPP ratios (Experiment 2) in corn-soybean meal diets fed to broiler chickens from 2 to 23 d of age. In Experiment 1, dietary treatments consisted of 7 concentrations of Ca (0.4, 0.6, 0.8, 1.0, 1.2, 1.4, or 1.6% of the diet; 7 treatments total), and NPP concentrations were maintained at 0.3%. Increasing the dietary Ca concentration while maintaining 0...
April 20, 2017: Poultry Science
https://www.readbyqxmd.com/read/28431174/opportunities-for-exercise-during-pullet-rearing-part-ii-long-term-effects-on-bone-characteristics-of-adult-laying-hens-at-the-end-of-lay
#9
T M Casey-Trott, D R Korver, M T Guerin, V Sandilands, S Torrey, T M Widowski
Osteoporosis in laying hens has been a production and welfare concern for several decades. The objective of this study was to determine whether differing opportunities for exercise during pullet rearing influences long-term bone quality characteristics in end-of-lay hens. A secondary objective was to assess whether differing opportunities for exercise in adult housing systems alters bone quality characteristics in end-of-lay hens. Four flock replicates of 588 Lohmann Selected Leghorn-Lite pullets were reared in either conventional cages (Conv) or an aviary rearing system (Avi) and placed into conventional cages (CC), 30-bird furnished cages (FC-S), or 60-bird furnished cages (FC-L) for adult housing...
April 18, 2017: Poultry Science
https://www.readbyqxmd.com/read/28431141/grade-and-location-of-power-doppler-are-predictive-of-damage-progression-in-rheumatoid-arthritis-patients-in-clinical-remission-by-anti-tumour-necrosis-factor-%C3%AE
#10
Bernd Raffeiner, Enrico Grisan, Costantino Botsios, Roberto Stramare, Gaia Rizzo, Livio Bernardi, Leonardo Punzi, Francesca Ometto, Andrea Doria
Objectives.: To investigate power Doppler (PD) signal, grade and location and their association with radiographic progression in RA patients in remission. Methods: . A prospective observational study was conducted in 125 consecutive RA patients in stable 28-joint DAS (DAS28) remission (⩾6 months) achieved on anti-TNF-α. At baseline, patients in stable remission underwent radiographic and US examination of the wrists and MCP, PIP and MTP joints. Semi-quantitative PD scoring (0-3) was recorded...
April 20, 2017: Rheumatology
https://www.readbyqxmd.com/read/28431003/intracoronary-autologous-bone-marrow-cell-transfer-after-myocardial-infarction-the-boost-2-randomised-placebo-controlled-clinical-trial
#11
Kai C Wollert, Gerd P Meyer, Jochen Müller-Ehmsen, Carsten Tschöpe, Vernon Bonarjee, Alf Inge Larsen, Andreas E May, Klaus Empen, Emmanuel Chorianopoulos, Ulrich Tebbe, Johannes Waltenberger, Heiko Mahrholdt, Benedikta Ritter, Jens Pirr, Dieter Fischer, Mortimer Korf-Klingebiel, Lubomir Arseniev, Hans-Gert Heuft, Jan E Brinchmann, Diethelm Messinger, Bernd Hertenstein, Arnold Ganser, Hugo A Katus, Stephan B Felix, Meinrad P Gawaz, Kenneth Dickstein, Heinz-Peter Schultheiss, Dennis Ladage, Simon Greulich, Johann Bauersachs
Aims: Intracoronary infusion of autologous nucleated bone marrow cells (BMCs) enhanced the recovery of left ventricular ejection fraction (LVEF) after ST-segment elevation myocardial infarction (STEMI) in the randomised-controlled, open-label BOOST trial. We reassessed the therapeutic potential of nucleated BMCs in the randomised placebo-controlled, double-blind BOOST-2 trial conducted in 10 centres in Germany and Norway. Methods and results: Using a multiple arm design, we investigated the dose-response relationship and explored whether γ-irradiation which eliminates the clonogenic potential of stem and progenitor cells has an impact on BMC efficacy...
April 19, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28430954/increased-multinucleated-megakaryocytes-as-an-isolated-finding-in-bone-marrow-%C3%A2-a-rare-finding-and-its-clinical-significance
#12
Majd D Jawad, Ronald S Go, Kaaren K Reichard, Min Shi
Objectives: Multinucleated megakaryocytes are a unique morphologic form of megakaryocytes characterized by multiple, distinctly separated nuclei. We investigated whether increased multinucleated megakaryocytes (≥25%) in otherwise normal-appearing bone marrow were associated with the development of a myelodysplastic syndrome (MDS). Methods: We retrospectively reviewed the medical records and bone marrow biopsy specimens of patients evaluated at our institution from 2011 to 2015 that met all of the following criteria: (1) 25% or more multinucleated megakaryocytes, (2) no other dysplastic features, (3) absence of a myeloid neoplasm, and (4) absence of neoplastic karyotypic abnormalities...
November 1, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28430916/osteoclasts-control-lipid-secretion-to-regulate-breast-cancer-bone-metastasis
#13
Jesus Delgado-Calle
No abstract text is available yet for this article.
March 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28430877/the-accessible-chromatin-landscape-during-conversion-of-human-embryonic-stem-cells-to-trophoblast-by-bmp4
#14
Yajun Liu, Dewu Ding, Hongde Liu, Xiao Sun
Human embryonic stem cells (hESC) exposed to the growth factor bone morphogenic protein 4 (BMP4) in the absence of FGF2 have been used as a model to study the development of placental development. However, little is known about the cis-regulatory mechanisms underlying this important process. In this study, we used the public available chromatin accessibility data of hESC H1 cells and BMP4-induced trophoblast (TB)cell lines to identify DNase I hypersensitive sites (DHSs) in the two cell lines, as well as the transcription factor binding sites within the DHSs...
April 18, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28430851/accuracy-of-offspring-reported-parental-hip-fractures-a-novel-population-based-parent-offspring-record-linkage-study
#15
Lisa M Lix, William D Leslie, Shuman Yang, Lin Yan, Randy Walld, Suzanne N Morin, Sumit R Majumdar, Leslie L Roos
The objective of this study was to test the validity of offspring-reported parental hip fracture in a unique bone mineral density (BMD) registry linked to administrative databases spanning 4 decades. Population-based data were from Manitoba, Canada, and included hospital abstracts, health insurance registrations, and the provincewide BMD registry. The cohort included individuals aged ≥40 years with BMD tests and self-reports of parental hip fracture between 2006 and 2014. Population registry data for 1966-2014 were used to link offspring with their parents, and hospital records were used to ascertain parental fractures...
April 20, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28430825/discovery-and-fine-mapping-of-adiposity-loci-using-high-density-imputation-of-genome-wide-association-studies-in-individuals-of-african-ancestry-african-ancestry-anthropometry-genetics-consortium
#16
Maggie C Y Ng, Mariaelisa Graff, Yingchang Lu, Anne E Justice, Poorva Mudgal, Ching-Ti Liu, Kristin Young, Lisa R Yanek, Mary F Feitosa, Mary K Wojczynski, Kristin Rand, Jennifer A Brody, Brian E Cade, Latchezar Dimitrov, Qing Duan, Xiuqing Guo, Leslie A Lange, Michael A Nalls, Hayrettin Okut, Salman M Tajuddin, Bamidele O Tayo, Sailaja Vedantam, Jonathan P Bradfield, Guanjie Chen, Wei-Min Chen, Alessandra Chesi, Marguerite R Irvin, Badri Padhukasahasram, Jennifer A Smith, Wei Zheng, Matthew A Allison, Christine B Ambrosone, Elisa V Bandera, Traci M Bartz, Sonja I Berndt, Leslie Bernstein, William J Blot, Erwin P Bottinger, John Carpten, Stephen J Chanock, Yii-Der Ida Chen, David V Conti, Richard S Cooper, Myriam Fornage, Barry I Freedman, Melissa Garcia, Phyllis J Goodman, Yu-Han H Hsu, Jennifer Hu, Chad D Huff, Sue A Ingles, Esther M John, Rick Kittles, Eric Klein, Jin Li, Barbara McKnight, Uma Nayak, Barbara Nemesure, Adesola Ogunniyi, Andrew Olshan, Michael F Press, Rebecca Rohde, Benjamin A Rybicki, Babatunde Salako, Maureen Sanderson, Yaming Shao, David S Siscovick, Janet L Stanford, Victoria L Stevens, Alex Stram, Sara S Strom, Dhananjay Vaidya, John S Witte, Jie Yao, Xiaofeng Zhu, Regina G Ziegler, Alan B Zonderman, Adebowale Adeyemo, Stefan Ambs, Mary Cushman, Jessica D Faul, Hakon Hakonarson, Albert M Levin, Katherine L Nathanson, Erin B Ware, David R Weir, Wei Zhao, Degui Zhi, Donna K Arnett, Struan F A Grant, Sharon L R Kardia, Olufunmilayo I Oloapde, D C Rao, Charles N Rotimi, Michele M Sale, L Keoki Williams, Babette S Zemel, Diane M Becker, Ingrid B Borecki, Michele K Evans, Tamara B Harris, Joel N Hirschhorn, Yun Li, Sanjay R Patel, Bruce M Psaty, Jerome I Rotter, James G Wilson, Donald W Bowden, L Adrienne Cupples, Christopher A Haiman, Ruth J F Loos, Kari E North
Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC) using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes...
April 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28430716/simultaneous-multislice-accelerated-turbo-spin-echo-magnetic-resonance-imaging-comparison-and-combination-with-in-plane-parallel-imaging-acceleration-for-high-resolution-magnetic-resonance-imaging-of-the-knee
#17
Jan Fritz, Benjamin Fritz, Jialu Zhang, Gaurav K Thawait, Dharmdev H Joshi, Li Pan, Dingxin Wang
PURPOSE: We prospectively quantified the signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of integrated parallel acquisition technique (PAT) and simultaneous multislice (SMS) acceleration and various combinations thereof, and we further compared two 4-fold-accelerated (PAT2-SMS2) high-resolution turbo spin echo (TSE) magnetic resonance imaging (MRI) protocols of the knee against a clinical 2-fold-accelerated (PAT2-SMS1) TSE standard. MATERIALS AND METHODS: Institutional review board approval was obtained, and all subjects gave informed consent...
April 20, 2017: Investigative Radiology
https://www.readbyqxmd.com/read/28430703/evidence-based-recommendations-for-pediatric-orthopaedic-practice
#18
Kishore Mulpuri, Emily K Schaeffer, H Kerr Graham, Mininder S Kocher, James Sanders, Ira Zaltz
BACKGROUND: Evidence-based medicine has become the cornerstone to guide clinical practice decision-making. Evidence-based medicine integrates the strongest available evidence with clinical expertise to make decisions about clinical care. The quality of the evidence depends upon the soundness of the study methodology to allow for meaningful interpretation of the clinical results. The purpose of this review is to analyze the methodological design and clinical findings of published pediatric orthopaedic studies to determine their ability to change or influence clinical practice...
April 20, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28430676/a-biomimetic-alternative-to-synthetic-hydroxyapatite-boron-containing-bone-like-hydroxyapatite-precipitated-from-simulated-body-fluid
#19
Mert Calis, Tugrul Tolga Demirtas, Alper Vatansever, Gulseren Irmak, Ahmet Hamdi Sakarya, Pergin Atilla, Figen Ozgur, Menemse Gumusderelioglu
BACKGROUND: Biological hydroxyapatite (HA), has several mechanical and physical advantages over the commercially available synthetic apatite (CAP-HA). The aim of this in vivo study was to investigate the effect of osteoinductive "bone-like hydroxyapatite" obtained from simulated body fluid (SBF) combined with osteoinductive "boron" (B) on bone healing. MATERIALS: Bone like nanohydroxyapatite (SBF-HA) was precipitated from 10× simulated body fluid (10×SBF). Thirty Sprague-Dawley rats were randomly divided into 5 experimental groups (n = 6 each)...
April 20, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28430378/treating-paget-s-disease-why-and-how-much
#20
Tim Cundy
Paget's disease (PDB) is a benign chronic focal disorder of older people. Affected bones have greatly accelerated bone turnover, a chaotic structure and are highly vascular. People with PDB are commonly asymtomatic but can also suffer chronic bone pain. Affected bones may become enlarged and deformed; and they are also liable to fracture. This article is protected by copyright. All rights reserved.
April 21, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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